PDF(Pubmed)
Abstract：
Peripheral and autonomic neuropathy are common disease manifestations in systemic amyloidosis. The neurofilament light chain (NfL), a neuron-specific biomarker, is released into the blood and cerebrospinal fluid after neuronal damage. There is a need for an early and sensitive blood biomarker for polyneuropathy, and this systematic review provides an overview on the value of NfL in the early detection of neuropathy, central nervous system involvement, the monitoring of neuropathy progression, and treatment effects in systemic amyloidosis. A literature search in PubMed, Embase, and Web of Science was performed on 14 February 2024 for studies investigating NfL levels in patients with systemic amyloidosis and transthyretin gene-variant (TTRv) carriers. Only studies containing original data were included. Included were thirteen full-text articles and five abstracts describing 1604 participants: 298 controls and 1306 TTRv carriers or patients with or without polyneuropathy. Patients with polyneuropathy demonstrated higher NfL levels compared to healthy controls and asymptomatic carriers. Disease onset was marked by rising NfL levels. Following the initiation of transthyretin gene-silencer treatment, NfL levels decreased and remained stable over an extended period. NfL is not an outcome biomarker, but an early and sensitive disease-process biomarker for neuropathy in systemic amyloidosis. Therefore, NfL has the potential to be used for the early detection of neuropathy, monitoring treatment effects, and monitoring disease progression in patients with systemic amyloidosis.
摘要：
周围性和自主神经病变是系统性淀粉样变性的常见疾病表现。神经丝轻链（NfL），神经元特异性生物标志物，神经元损伤后释放到血液和脑脊液中。需要一种用于多发性神经病的早期和敏感的血液生物标志物，这篇系统综述概述了NfL在神经病变早期检测中的价值，中枢神经系统受累，监测神经病变的进展，和治疗效果的系统性淀粉样变性。在PubMed中进行文献检索，Embase,和WebofScience于2024年2月14日进行了研究，以调查系统性淀粉样变性和甲状腺素运载蛋白基因变异（TTRv）携带者的NfL水平。仅包括包含原始数据的研究。包括13篇全文文章和5篇摘要，描述了1604名参与者：298名对照和1306名TTRv携带者或有或没有多发性神经病的患者。与健康对照和无症状携带者相比，多发性神经病患者的NfL水平更高。疾病发作以NfL水平上升为标志。在启动转甲状腺素蛋白基因沉默子治疗后，NfL水平下降，并在较长时间内保持稳定。NfL不是结果生物标志物，而是系统性淀粉样变性神经病变的早期和敏感的疾病过程生物标志物。因此,NfL有可能用于神经病的早期检测，监测治疗效果，监测系统性淀粉样变性患者的疾病进展。
